Eliptocytosis: Definition, Types, Causes, Symptoms, Diagnosis and Treatment

The appearance of the red blood cells deformed by the condition can be compared to the shape of the eggs by visualizing blood collection under a microscope.

Eliptocitosis is a congenital condition or disease; it is inherited through the parents and is characterized by a malformation of the red blood cells, which adopt an abnormal appearance such as an oval or an elliptical.

They tend to be elongated, and hemoglobin is usually concentrated in the extremities of the cells, which tend to be blunt, therefore, not as sharp as sickle cells.

Elliptocytosis occurs most often in people who have blood disorders, such as those who have megaloblastic anemia because of a marked deficiency of iron or elliptocytes.

Importance of red blood cells

Among the components that make up the blood are red blood cells with an approximate 45%, plasma with a presence of 54%, and the remaining 1% is divided between white blood cells and platelets, so red blood cells have an essential value in blood formation.

Among the functions performed by these globules for the organism is the transfer of oxygen to the body’s tissues to exchange them for carbon dioxide, which will be definitively expelled from the organism using the lungs.

The genetic malformation of red blood cells generated by Eliptocytosis can cause these functions not to be executed efficiently, affecting notoriously the body, which may incur a deficient performance between physical characteristics distinctive to the common denominator.

 

Types of Eliptocytosis

The genetic malformation that occurs in red blood cells can be divided into three types:

  • Common elliptocytosis is characterized by being the most frequent in the index of people affected with this genetic condition.
  • Stomatocytic elliptocytosis: This condition is also known as ovalocytosis in Southeast Asia. The rate of affected people is more frequent in that continent, but specialist doctors can call it Melanosic elliptocytosis.
  • Spherocytic elliptocytosis: in this case, the abnormality in red blood cells is usually milder than in common elliptocytosis.

Causes

Eliptocitosis is a hereditary condition, and the malformation presents autosomal dominance in the following genes in the process of gestation of the fetus:

  • Cromosoma 1 – Gen EPB41.
  • Cromosoma 1 – Gen SPTA1.
  • Cromosoma 14 – Gen SPTB.
  • Chromosome 17 – SAO Gene.

Among the recorded stomatocytosis, leukocytosis, or ovalocytosis in Southeast Asia, an average of 2 affected per 10,000 newborns in the Philippines, Malaysia, and Indonesia.

While in Northern Europe, for every 2,500 newborns, only one suffers from Eliptocytosis. According to some studies, this anomaly is more frequent in African patients.

Symptoms of Eliptocytosis

People suffering from this condition have the following symptoms and predominant physical characteristics:

  • Respiratory problems.
  • Fatigue or fatigue without physical activities.
  • The tone of the yellowish skin and the white part of the eye.
  • Proportional enlargement of the spleen, better known as splenomegaly.

Patients with Eliptocytosis tend to have hemolytic anemia that is usually mild, but it depends on the individual who suffers.

This type of anemia occurs when accelerated destruction of red blood cells occurs and tends to stabilize after six months of the newborn’s life.

Diagnosis

Specialist doctors, to determine if a patient or newborn has this condition, can perform:

  • Blood count: This test shows if the red blood cells are destroyed abnormally, causing an unconscious state.
  • Blood smear: it allows to evaluate if the red blood cells are elliptical.
  • Bilirubin test: Patients with high bilirubin without an apparent condition may suffer from Eliptocytosis.

Treatment

This genetic and hereditary condition has no conventional treatment; if the condition ultimately affects the functioning of the organism, the spleen can be removed to reduce the damage suffered by the red blood cells and thus prolong healthy life in the affected person due that the constant decrease in red blood cells causes an anemic condition that is increasingly higher.

It is also possible to control the anemic peaks in patients who have this condition throughout their lives to reduce future risks.